BARMACS
MCID: BRL013
MIFTS: 14

Baralle-Macken Syndrome (BARMACS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Baralle-Macken Syndrome

MalaCards integrated aliases for Baralle-Macken Syndrome:

Name: Baralle-Macken Syndrome 57 6
Neurodevelopmental Disorder with Cataracts and Variable Microcephaly 57
Barmacs 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable extraneurologic features
six girls from 2 unrelated consanguineous families have been reported (last curated march 2021)


Classifications:



External Ids:

OMIM® 57 619255

Summaries for Baralle-Macken Syndrome

OMIM® : 57 Baralle-Macken syndrome (BARMACS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy, difficulty walking or inability to walk, and impaired intellectual development with poor or absent speech. Affected individuals develop early-onset cataracts; some may have microcephaly. Additional more variable features may include dysmorphic facial features, metabolic abnormalities, spasticity, and lymphopenia (summary by Macken et al., 2021). (619255) (Updated 20-May-2021)

MalaCards based summary : Baralle-Macken Syndrome, is also known as neurodevelopmental disorder with cataracts and variable microcephaly. An important gene associated with Baralle-Macken Syndrome is COPB1 (COPI Coat Complex Subunit Beta 1). Affiliated tissues include t cells.

Related Diseases for Baralle-Macken Syndrome

Symptoms & Phenotypes for Baralle-Macken Syndrome

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
high palate
narrow palate

Head And Neck Eyes:
cataracts
upslanting palpebral fissures

Growth Other:
increased bmi (family a)
poor overall growth (family b)

Skeletal Spine:
kyphosis (family a)

Skeletal Feet:
foot deformities (family a)

Skin Nails Hair Hair:
hirsutism (family a)

Endocrine Features:
early menarche (family a)

Neurologic Central Nervous System:
global developmental delay
unsteady gait
inability to walk
poor mobility
delayed walking
more
Head And Neck Face:
dysmorphic facial features (in some patients)

Head And Neck Head:
microcephaly (in some patients, range -0.2 to -7.9)

Skeletal Hands:
tapering fingers (family a)

Skin Nails Hair Skin:
axillary acanthosis (family a)
striae distensae (family a)

Metabolic Features:
insulin resistance (family a)

Immunology:
immunodeficiency (family b)
lymphopenia (family b)
decreased cd4+ t cells (family b)
impaired antibody production (family b)

Clinical features from OMIM®:

619255 (Updated 20-May-2021)

Drugs & Therapeutics for Baralle-Macken Syndrome

Search Clinical Trials , NIH Clinical Center for Baralle-Macken Syndrome

Genetic Tests for Baralle-Macken Syndrome

Anatomical Context for Baralle-Macken Syndrome

MalaCards organs/tissues related to Baralle-Macken Syndrome:

40
T Cells

Publications for Baralle-Macken Syndrome

Articles related to Baralle-Macken Syndrome:

# Title Authors PMID Year
1
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly. 6 57
33632302 2021

Variations for Baralle-Macken Syndrome

ClinVar genetic disease variations for Baralle-Macken Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COPB1 NM_001144061.2(COPB1):c.957+1G>T SNV Pathogenic 996016 GRCh37: 11:14504577-14504577
GRCh38: 11:14483031-14483031
2 COPB1 NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val) SNV Pathogenic 996037 GRCh37: 11:14496127-14496127
GRCh38: 11:14474581-14474581

Expression for Baralle-Macken Syndrome

Search GEO for disease gene expression data for Baralle-Macken Syndrome.

Pathways for Baralle-Macken Syndrome

GO Terms for Baralle-Macken Syndrome

Sources for Baralle-Macken Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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